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Pseudoxanthoma Elasticum (PXE)-Like Fibers in Patients Without PXE

✍ Scribed by A.R. Bowen; C. Gotting; P.E. LeBoit; T.H. McCalmont

Book ID
110750890
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
629 KB
Volume
32
Category
Article
ISSN
0303-6987

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ABCC6 mutations in Italian families affe
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE)
✍ Dealba Gheduzzi; Rita Guidetti; Claudia Anzivino; Patrizia Tarugi; Enza Di Leo; πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 180 KB

Pseudoxanthoma elasticum (PXE) is a genetic disorder, characterized by cutaneous, ocular and cardiovascular clinical symptoms, caused by mutations in a gene (ABCC6) that encodes for MRP6 (Multidrug Resistance associated Protein 6), an ATP-binding cassette membrane transporter. The ABCC6 gene was seq